Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings

European Journal of Paediatric Neurology

Volumn 11, Issue 1, 2007, Pages 35-38

  Chemli, Jalel ^a   Abroug, Mejdi ^a   Tlili, Kalthoum ^a   Harbi, Abdelaziz ^a  

^a SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

Ataxia; Cerebellar abnormalities; Hydrocephalus; Rhombencephalosynapsis; Vermian agenesis

Indexed keywords

ARTICLE; BONE MALFORMATION; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM AGENESIS; CEREBELLUM VERMIS; CHILDHOOD DISEASE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CORPUS CALLOSUM AGENESIS; DENTATE NUCLEUS; FACE DYSMORPHIA; HEMISPHERE; HUMAN; HYDROCEPHALUS; INTELLIGENCE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARALYSIS; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RHOMBENCEPHALOSYNAPSIS; SEPTUM PELLUCIDUM; SPASTICITY; TUNISIA;

AGE FACTORS; CHILD, PRESCHOOL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM MALFORMATIONS; RHOMBENCEPHALON;

EID: 33846182253     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2006.09.007     Document Type: Article

References (22)

1. Gross H., and Hoff H. Sur les dysraphies crâniocéphaliques. In: Heuyer G., Feld M., and Gruner J. (Eds). Malformations Congénitales du Cerveau (1959), Masson, Paris 287-296
2. Truwit C., Barkovich A.J., Shanahan R., and Maroldo T. MR imaging of rhombencephalosynapsis: report of three cases and review of the literature. Am J Neuroradiol 12 (1991) 957-965
3. Savolaine E., Fadell R., and Patel Y. Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging. Clin Imaging 15 (1991) 125-129
4. Napolitano M., Righini A., Zirpoli S., et al. Prenatal magnetic resonance imaging of rhomencephalosynapsis and associated brain anomalies. Report of 3 cases. J Comput Assist Tomogr 28 (2004) 762-765
5. Demaerel P., Morel C., Lagae L., and Wilms G. Partial rhombencephalosynapsis. Am J Neuroradiol 25 (2004) 29-31
6. Wan S.M.Y., Khong P.L., Ip P., and Ooi G.C. Partial rhombencephalosynapsis and Chiari II malformation. Hong Kong Med J 11 (2005) 299-302
7. Montull C., Mercader J.M., Peri J., Martinez Ferri M., and Bonaventura I. Neurological and clinical findings in rhombencephalosynapsis. Neuroradiology 42 (2000) 272-274
8. Toelle S.P., Yalcinkaya C., Kocer N., et al. Rhombencephalosynapsis: clinical findings and neuro-imaging in 9 children. Neuropediatrics 33 (2002) 209-214
9. Sener R. Unusuel MRI findings in rhombencephalosynapsis. Comput Med Imaging Graph 24 (2000) 277-282
10. Romamengo M., Tortori-Donati P., and Di Rocco M. Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report. Clin Genet 52 (1997) 184-186
11. Danon O., Elmaleh M., Boukobza B., et al. Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings. Magn Reson Imaging 18 (2000) 99-101
12. Oei A.S., Vanzieleghem B.D., and Kunnen M.F. Diagnosic imaging and clinical findings in rhombencephalosynapsis: case report and literature review. JBR-BTR 84 (2001) 197-200
13. Bell B.D., Stanko H.A., and Levine R.L. Normal IQ in a 55-year-old with newly diagnosed rhombencephalosynapsis. Arch Clin Neuropsychol 20 (2005) 613-621
14. Guyot L.L., Kazmierczak C.D., and Michael D.B. Adult rhombencephalosynapsis. Case report. J Neurosurg 93 (2000) 323-325
15. Takanashi J., Sugita K., Barkovich A.J., Takano H., and Kohno Y. Partial midline fusion of the cerebellar hemispheres with vertical folia: a new cerebellar malformation?. Am J Neuroradiol 20 (1999) 1151-1153
16. Utsunomiya H., Takano K., Ogasawara T., et al. Rhombencephalosynapsis: cerebellar embryogenesis. Am J Neuroradiol 19 (1998) 547-549
17. Castillo M., and Mukherji S.K. Developmental anomalies infratentorial. Imaging of the pediatric head, neck and spine (1996), Lippincott-Raven, Philadelphia 91-93
18. Wassef M., and Joyner A.L. Early mesencephalon/metencephalon patterning and development of the cerebellum. Perspect Dev Neurobiol 5 (1997) 3-16
19. Sarnat H.B. Molecular genetic classification of central nervous system malformations. J Child Neurol 15 (2000) 675-687
20. Manzanares M., Trainor P.A., Ariza-McNaughton L., Nonchev S., and Krumlauf R. Dorsal patterning defects in the hindbrain, roof plate and skeleton in the dreher (dr(J)) mouse mutant. Mech Dev 94 (2000) 147-156
21. Millonig J.H., Millen K.J., and Hatten M.E. The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS. Nature 403 (2000) 764-769
22. Yachnis A.T. Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenic considerations. Acta Neuropathol 103 (2002) 301-304